An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
Comprehensive, easy-to-understand information about this condition
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Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 3 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.